A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassaemia
Author:
Affiliation:
1. Prenatal Diagnostic Centre; Guangzhou Women and Children Medical Centre affiliated to Guangzhou Medical University; Guangzhou Guangdong China
2. Prenatal Diagnostic Centre; Dongguan Maternal and Children Health Hospital; Dongguan Guangdong China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.14005/fullpdf
Reference10 articles.
1. Novel large deletions in the human α-globin gene cluster: clarifying the HS-40 long-range regulatory role in the native chromosome environment;Coelho;Blood Cells, Molecules, and Diseases,2010
2. The role of insulator elements in defining domains of gene expression;Geyer;Current Opinion in Genetics & Development,1997
3. The alpha thalassaemias;Higgs;Cellular and Molecular Life Sciences,2009
4. Long-range regulation of alpha globin gene expression during erythropoiesis;Higgs;Current Opinion in Hematology,2008
5. Characterization of the major regulatory element upstream of the human alpha-globin gene cluster;Jarman;Cellular and Molecular Biology,1991
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1. Ancestry of the major long-range regulatory site of the α-globin genes in the Portuguese population with the common 3.7 kb α-thalassemia deletion;Molecular Biology Reports;2024-05-05
2. Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5’ boundary region;PLOS Genetics;2023-05-22
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4. Molecular spectrum of α‐ and β‐thalassemia among individuals of reproductive age in the Zhuhai region of southern China;International Journal of Laboratory Hematology;2023-03-14
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